Dr Sophie Legge

(hi/ei)

2026

• Gergel, T. et al., 2026. A tool to evaluate the impact of lived experience involvement in research: the Brain and Genomics Hub Impact Log protocol. Wellcome Open Research 11 562. (10.12688/wellcomeopenres.27426.1)
• Godoi, D. C. , Walters, J. T. and Legge, S. E. 2026. Behavioural and genetic predictors of positive symptoms in psychotic disorders [Abstract]. European Psychiatry 69 (S1), pp.S177-S177. (10.1192/j.eurpsy.2026.10526)
• Smart, S. E. et al. 2026. Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol. PLoS ONE 21 (2) e0340584. (10.1371/journal.pone.0340584)
• Murtough, S. et al., 2026. ACKR1 genetic testing should be offered before starting clozapine treatment. Nature Mental Health 4 , pp.30-41. (10.1038/s44220-025-00554-9)
• Lock, S. K. et al. 2026. Near, far, wherever you are: phenotype-related variation in pharmacogenomic effect sizes across the psychiatric drug literature. Frontiers in Pharmacology 16 1719761. (10.3389/fphar.2025.1719761)
• Hibbs, S. P. et al., 2026. Multinational assessment of absolute neutrophil counts and white blood cell counts among healthy Duffy null adults. Blood 147 (3), pp.290-298. (10.1182/blood.2025029359)
• Kendall, K. M. et al. 2026. The relationship between schizophrenia polygenic scores, blood-based proteins and psychosis diagnosis in the UK Biobank. Schizophrenia 12 24. (10.1038/s41537-025-00725-8)

2025

• Richards, A. L. et al. 2025. Effects of shared and nonshared schizophrenia and bipolar disorder alleles on cognition and educational attainment in the UK Biobank. Biological Society: Global Open Science 5 (6) 100601. (10.1016/j.bpsgos.2025.100601)
• Smart, S. E. et al. 2025. The role of SLC39A8.p.( Ala391Thr ) in schizophrenia symptom severity and cognitive ability: cross‐sectional studies of schizophrenia and the general UK population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 198 (7), pp.135-146. (10.1002/ajmg.b.33037)
• Cardno, A. G. et al., 2025. Associations between psychotic experience dimensions and polygenic liability to schizophrenia in a longitudinal birth cohort. BJPsych Open 11 (5) e197. (10.1192/bjo.2025.10825)
• Lock, S. K. et al. 2025. Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophrenia. EBioMedicine 116 105745. (10.1016/j.ebiom.2025.105745)
• Cardno, A. G. et al., 2025. Associations of psychotic symptom dimensions with clinical and developmental variables in twin and general clinical samples. The British Journal of Psychiatry 226 (1), pp.16-23. (10.1192/bjp.2024.129)

2024

• Woolway, G. E. et al., 2024. Assessing the validity of a self-reported clinical diagnosis of schizophrenia. Schizophrenia 10 (1) 99. (10.1038/s41537-024-00526-5)
• Shitomi-Jones, L. M. et al. 2024. Exploration of first onsets of mania, schizophrenia spectrum disorders and major depressive disorder in perimenopause. nature mental health 2 (10), pp.1161-1168. (10.1038/s44220-024-00292-4)
• Legge, S. E. et al. 2024. Genetic and phenotypic features of Schizophrenia in the UK Biobank. JAMA Psychiatry 81 , pp.681-690. (10.1001/jamapsychiatry.2024.0200)
• Trastulla, L. et al., 2024. Distinct genetic liability profiles define clinically relevant patient strata across common diseases. Nature Communications 15 5534. (10.1038/s41467-024-49338-2)
• Stevenson-Hoare, J. et al. 2024. Severe psychiatric disorders are associated with increased risk of dementia. BMJ Mental Health 27 (1) e301097. (10.1136/bmjment-2024-301097)
• Silva, E. et al., 2024. Understanding clozapine-related blood dyscrasias. Developments, genetics, ethnicity and disparity: it's a CIN. BJPsych Bulletin 49 (3), pp.163-168. (10.1192/bjb.2024.38)
• Caseras, X. et al. 2024. Common risk alleles for schizophrenia within the major histocompatibility complex predict white matter microstructure. Translational Psychiatry 14 194. (10.1038/s41398-024-02910-2)

2023

• Caseras, X. et al. 2023. Copy Number Variants increasing risk for schizophrenia: shared and distinct effects on brain morphometry and cognitive performance. Biological Psychiatry: Global Open Science 3 (4), pp.902-911. (10.1016/j.bpsgos.2022.10.006)
• Jones, R. et al., 2023. Early neutrophil trajectory following clozapine may predict clozapine response ? Results from an observational study using electronic health records. Brain, Behavior, and Immunity 113 , pp.267-274. (10.1016/j.bbi.2023.07.012)
• Lock, S. K. et al. 2023. Mediation and longitudinal analysis to interpret the association between clozapine pharmacokinetics, pharmacogenomics, and absolute neutrophil count. Schizophrenia 9 74. (10.1038/s41537-023-00404-6)
• Owen, M. et al. 2023. Genomic findings in schizophrenia and their implications. Molecular Psychiatry 28 , pp.3638-3647. (10.1038/s41380-023-02293-8)
• Kappel, D. B. et al. 2023. Genomic stratification of clozapine prescription patterns using schizophrenia polygenic scores. Biological Psychiatry 93 , pp.149-156. (10.1016/j.biopsych.2022.07.014)

2022

• Woolway, G. et al. 2022. Schizophrenia polygenic risk and experiences of childhood adversity: a systematic review and meta-analysis. Schizophrenia Bulletin 48 (5), pp.967-980. (10.1093/schbul/sbac049)
• Creeth, H. D. J. et al. 2022. Ultrarare coding variants and cognitive function in schizophrenia. JAMA Psychiatry 79 (10), pp.963-970. (10.1001/jamapsychiatry.2022.2289)
• Jones, R. et al., 2022. Duration of prior psychotic illness and clozapine response: a retrospective observational study using electronic health records. Therapeutic Advances in Psychopharmacology 12 , pp.1-12. (10.1177/20451253221103353)
• Chambers, T. et al. 2022. Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank. Molecular Psychiatry 27 , pp.2282-2290. (10.1038/s41380-022-01443-8)
• Owen, M. and Legge, S. 2022. The nature of schizophrenia: as broad as it is long. Schizophrenia Research 242 , pp.109-112. (10.1016/j.schres.2021.10.012)
• Trubetskoy, V. et al., 2022. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Nature 604 , pp.502-508. (10.1038/s41586-022-04434-5)
• Okhuijsen-Pfeifer, C. et al., 2022. Genome-wide association analyses of symptom severity among clozapine-treated patients with schizophrenia spectrum disorders. Translational Psychiatry 12 145. (10.1038/s41398-022-01884-3)
• Vassos, E. et al., 2022. Lack of support for the genes by early environment interaction hypothesis in the pathogenesis of schizophrenia. Schizophrenia Bulletin 48 (1), pp.20-26. (10.1093/schbul/sbab052)
• Sanders, B. et al. 2022. Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. Nature Communications 13 (1) 27. (10.1038/s41467-021-27601-0)
• Pardinas, A. et al. 2022. Interaction testing and polygenic risk scoring to estimate the contribution of common genetic variants to treatment resistance in schizophrenia. JAMA Psychiatry 79 (3), pp.260-269. (10.1001/jamapsychiatry.2021.3799)

2021

• Legge, S. E. et al. 2021. Genetic architecture of schizophrenia: a review of major advancements. Psychological Medicine 51 (13)(10.1017/S0033291720005334)
• Dennison, C. et al. 2021. Risk factors, clinical features, and polygenic risk scores in schizophrenia and schizoaffective disorder depressive-type. Schizophrenia Bulletin 47 (5), pp.1375-1384. (10.1093/schbul/sbab036)
• Legge, S. et al. 2021. Associations between schizophrenia polygenic liability, symptom dimensions, and cognitive ability in schizophrenia. JAMA Psychiatry 78 (10), pp.1143-1151. (10.1001/jamapsychiatry.2021.1961)
• Hubbard, L. et al. 2021. Rare copy number variations are associated with poorer cognition in schizophrenia. Biological Psychiatry 90 (1), pp.28-34. (10.1016/j.biopsych.2020.11.025)
• Willcocks, I. et al. 2021. Clozapine metabolism is associated with absolute neutrophil count in individuals with treatment-resistant schizophrenia. Frontiers in Pharmacology 12 658734. (10.3389/fphar.2021.658734)
• Konte, B. et al., 2021. HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry. Translational Psychiatry 11 214. (10.1038/s41398-021-01322-w)
• Dennison, C. A. et al. 2021. Association of genetic liability for psychiatric disorders with accelerometer-assessed physical activity in the UK Biobank. PLoS ONE 16 (3) e0249189. (10.1371/journal.pone.0249189)
• Caseras, X. et al. 2021. Effects of genomic copy number variants penetrant for schizophrenia on cortical thickness and surface area in healthy individuals: analysis of the UK Biobank. British Journal of Psychiatry 218 (2), pp.104-111. (10.1192/bjp.2020.139)

2020

• Kendall, K. M. et al. 2020. Impact of schizophrenia genetic liability on the association between schizophrenia and physical illness: a data linkage study. BJPsych Open 6 (6) e139. (10.1192/bjo.2020.42)
• Legge, S. E. et al. 2020. The Duffy-null genotype and risk of infection. Human Molecular Genetics 29 (20), pp.3341-3349. (10.1093/hmg/ddaa208)
• Casetta, C. et al., 2020. A retrospective study of intramuscular clozapine prescription for treatment initiation and maintenance in treatment-resistant psychosis. British Journal of Psychiatry 217 (3), pp.506-513. (10.1192/bjp.2020.115)
• Grama, S. et al. 2020. Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. Translational Psychiatry 10 309. (10.1038/s41398-020-00940-0)
• Legge, S. et al. 2020. Clinical indicators of treatment-resistant psychosis. British Journal of Psychiatry 216 (5), pp.259-266. (10.1192/bjp.2019.120)
• Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46 (2), pp.-. (10.1093/schbul/sbz061)
• Dennison, C. A. et al. 2020. Genome-wide association studies in schizophrenia: Recent advances, challenges and future perspective. Schizophrenia Research 217 , pp.4-12. (10.1016/j.schres.2019.10.048)
• Rees, E. et al. 2020. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. Nature Neuroscience 23 (2), pp.179-184. (10.1038/s41593-019-0565-2)

2019

• Legge, S. E. et al. 2019. Association of genetic liability to psychotic experiences with neuropsychotic disorders and traits. JAMA Psychiatry 76 (12), pp.1256-1265. (10.1001/jamapsychiatry.2019.2508)
• Pardinas, A. F. et al. 2019. Pharmacogenomic variants and drug interactions identified through the genetic analysis of clozapine metabolism. American Journal of Psychiatry 176 (6), pp.477-486. (10.1176/appi.ajp.2019.18050589)
• Kendall, K. M. et al. 2019. Association of rare copy number variants with risk of depression. JAMA Psychiatry 76 (8), pp.818-825. (10.1001/jamapsychiatry.2019.0566)
• Legge, S. E. et al. 2019. A genome-wide association study in individuals of African ancestry reveals the importance of the Duffy-null genotype in the assessment of clozapine-related neutropenia. Molecular Psychiatry 24 , pp.328-337. (10.1038/s41380-018-0335-7)
• Legge, S. E. and Walters, J. T. 2019. Genetics of clozapine-associated neutropenia: recent advances, challenges and future perspective. Pharmacogenomics 20 (4), pp.279-290. (10.2217/pgs-2018-0188)

2018

• Ruderfer, D. M. et al., 2018. Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes. Cell 173 (7), pp.1705-1715.e16. (10.1016/j.cell.2018.05.046)
• Lynham, A. et al. 2018. Examining cognition across the bipolar / schizophrenia diagnostic spectrum. Journal of Psychiatry and Neuroscience 43 (3) 170076. (10.1503/jpn.170076)
• Pardinas, A. F. et al. 2018. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics 50 , pp.381-389. (10.1038/s41588-018-0059-2)

2017

• Legge, S. E. et al. 2017. Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. Molecular Psychiatry 22 , pp.1502-1508. (10.1038/mp.2016.97)
• Köhler-Forsberg, O. et al., 2017. Predictors of nonhospitalization and functional response in clozapine treatment: a nationwide, population-based cohort study. Journal of Clinical Psychopharmacology 37 (2), pp.148-154. (10.1097/JCP.0000000000000649)
• McLaughlin, R. L. et al., 2017. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications 8 14774. (10.1038/ncomms14774)
• Marshall, C. R. et al., 2017. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics 49 , pp.27-35. (10.1038/ng.3725)

2016

• Rees, E. et al. 2016. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 73 (9), pp.963-969. (10.1001/jamapsychiatry.2016.1831)
• Pardinas, A. et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. bioRxiv (10.1101/068593)
• Legge, S. et al. 2016. Reasons for discontinuing clozapine: a cohort study of patients commencing treatment. Schizophrenia Research 174 , pp.113-119. (10.1016/j.schres.2016.05.002)
• Thompson, J. V. et al., 2016. Antipsychotic polypharmacy and augmentation strategies prior to clozapine initiation: a historical cohort study of 310 adults with treatment-resistant schizophrenic disorders. Journal of Psychopharmacology 30 (5), pp.436-443. (10.1177/0269881116632376)
• Franke, B. et al., 2016. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nature Neuroscience 19 (3), pp.420-431. (10.1038/nn.4228)

2015

• Legge, S. E. 2015. Examining treatment response and adverse effects of clozapine. PhD Thesis , Cardiff University.

2014

• Gusev, A. et al., 2014. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. American Journal of Human Genetics 95 (5), pp.535-552. (10.1016/j.ajhg.2014.10.004)
• Ripke, S. et al., 2014. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511 (7510), pp.421-427. (10.1038/nature13595)
• Rees, E. et al. 2014. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Human Molecular Genetics 23 (6), pp.1669-1676. (10.1093/hmg/ddt540)
• Rees, E. et al. 2014. Analysis of copy number variations at 15 schizophrenia-associated loci. British Journal of Psychiatry 204 (2), pp.108-114. (10.1192/bjp.bp.113.131052)

2013

• Rees, E. et al. 2013. Evidence that duplications of 22q11.2 protect against schizophrenia. Molecular Psychiatry n/a (10.1038/mp.2013.156)
• Kirov, G. et al. 2013. The penetrance of copy number variations for schizophrenia and developmental delay. Biological Psychiatry 75 (5), pp.378-385. (10.1016/j.biopsych.2013.07.022)

2012

• Potter, R. et al. 2012. Missed opportunities: mental disorder in children of parents with depression. British Journal of General Practice (BJGP) 62 (600), pp.e487-e493. (10.3399/bjgp12X652355)